The National Strategic Action Plan for Rare Diseases (the Action Plan) was launched in 2020 by the Federal Minister for Health with bipartisan support. The Action Plan is the first nationally coordinated effort to address rare diseases in Australia. Developed by the rare disease sector, for the rare disease sector, the Action Plan provides a comprehensive policy framework.

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) led the collaborative development of the Action Plan in 2018 and 2019 through an extensive nation-wide multistakeholder consultation process.

RVA is working in partnership with stakeholders to support the collaborative implementation of the Action Plan, recognising that implementation is the shared responsibility across the entire rare disease sector. Alongside stakeholders, RVA continues to advocate for action to address gaps and inequities in rare disease awareness and education, care and support, and research and data. RVA is also leading collective efforts to encourage investment in nationally networked Rare Disease Centres of Expertise. In recognition of the broad impacts of rare diseases and the importance of a coordinated national approach, RVA is calling for the establishment of an Office for Rare Diseases within the Commonwealth Government.

The best possible health and wellbeing outcomes for Australians living with a rare disease.

Priority Populations Identified in the Action Plan

• Australians living with a rare disease
• Australians living with an undiagnosed rare disease
• Australians with an increased chance of developing a rare disease or of having a
  child with a rare disease
• Aboriginal and Torres Strait Islander people
• People living in regional, rural and remote areas
• People from culturally and linguistically diverse (CALD) backgrounds
• People experiencing socio-economic disadvantage

Subsequent implementation progress within the Care and Support Pillar informed the identification of Australians living with a rare disease disability as an additional priority population.

In partnership with a range of stakeholders, RVA is leading work on progressing implementation of the Research and Data Pillar. Key projects and examples include measuring implementation of the Action Plan, the RARE Portal, RVA’s Research and Project Partnerships, progressing work on guidelines for Australian Rare Disease Centres of Expertise, Australia’s Top 10 Rare Disease Research Priorities, and facilitating the Australian Rare Disease Research Network.

Monitoring the collaborative implementation of the Action Plan is vital to understanding how the Action Plan is driving meaningful change across the rare disease sector. Stewardship of the Action Plan is a key focus area of RVA’s Strategic Plan for 2025-2027.

Between September and October 2022 and during February 2023, RVA conducted an activity scan—the first measure, at the time, of Action Plan progress since its launch in 2020—inviting the rare disease sector to share projects, initiatives and achievements.

Go to the 2023 Status Report.

Measuring the systemic and human impact of the Action Plan requires more than counting and categorising activities. To address this challenge, in 2024, RVA staff engaged in training for the Most Significant Change (MSC) methodology.

The MSC methodology is a validated and flexible, person-centred evaluation framework that uses guided storytelling and independent review to identify the most meaningful changes from the perspectives of diverse stakeholders. RVA has adopted this framework as a core tool for monitoring progress across the rare disease sector.

RVA collects stories on an ongoing basis from all rare disease stakeholders, including people living with a rare disease, carers, advocates, health professionals, researchers, government and industry.